Medical Subject Headings

Last uploaded: August 28, 2024

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Preferred Name	Purine-Pyrimidine Metabolism, Inborn Errors
Synonyms	Purine Pyrimidine Metabolism, Inborn Errors
Definitions	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
ID	http://purl.bioontology.org/ontology/MESH/D011686
altLabel	Purine Pyrimidine Metabolism, Inborn Errors
AN	coordinate with specific purine /metab or pyrimidine /metab
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0034139
DC	1
definition	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
DX	19650101
HN	65
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	65
Mapped from	http://purl.bioontology.org/ontology/MESH/C564864 http://purl.bioontology.org/ontology/MESH/C537897 http://purl.bioontology.org/ontology/MESH/C565489 http://purl.bioontology.org/ontology/MESH/C563210 http://purl.bioontology.org/ontology/MESH/C562589 http://purl.bioontology.org/ontology/MESH/C562587 http://purl.bioontology.org/ontology/MESH/C567064 http://purl.bioontology.org/ontology/MESH/C538234 http://purl.bioontology.org/ontology/MESH/C538235 http://purl.bioontology.org/ontology/MESH/C566402 http://purl.bioontology.org/ontology/MESH/C536512 http://purl.bioontology.org/ontology/MESH/C566358 http://purl.bioontology.org/ontology/MESH/C537136
MDA	19990101
MMR	20160706
MN	C16.320.565.798 C18.452.648.798
notation	D011686
prefLabel	Purine-Pyrimidine Metabolism, Inborn Errors
TERMUI	T034553 T034554
TH	NLM (1965) UNK (19XX)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D008661

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10/E79.9	ICD10	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002552	NDFRT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-40000	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10CM/E79	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E79.9	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/X40UV	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/238006008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10037546	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D011686	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10/E79	ICD10	CUI
http://purl.bioontology.org/ontology/MEDDRA/10037546	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/2503-4417	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238006008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10037546	MDRFRE	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.798	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.798	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906025343774868	IOBC	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036705	PMAPP-PMO	LOOM
http://id.nlm.nih.gov/mesh/D011686	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011686	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0012624	OMIT	LOOM
http://doe-generated-ontology.com/OntoAD#C0034139	ONTOAD	LOOM